DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

A substantial number of individuals with bone marrow failure (BMF) present with one or more extra-hematopoietic abnormality. This suggests a constitutional or inherited basis, and yet many of them do not fit the diagnostic criteria of the known BMF syndromes. Through exome sequencing, we have now id...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Tummala, Hemanth, Walne, Amanda J., Williams, Mike, Bockett, Nicholas, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Wynn, Rob, Leblanc, Thierry, Fitzgibbon, Jude, Kelsell, David P., van Heel, David A., Payne, Elspeth, Plagnol, Vincent, Dokal, Inderjeet, Vulliamy, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5005432/
https://ncbi.nlm.nih.gov/pubmed/27346687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.002
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